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Protein

Protein APCDD1

Gene

APCDD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis.2 Publications

GO - Molecular functioni

  • Wnt-protein binding Source: UniProtKB

GO - Biological processi

  • astrocyte cell migration Source: Ensembl
  • hair follicle development Source: UniProtKB
  • negative regulation of Wnt signaling pathway Source: UniProtKB
  • Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Protein APCDD1
Alternative name(s):
Adenomatosis polyposis coli down-regulated 1 protein
Gene namesi
Name:APCDD1Imported
Synonyms:DRAPC1Imported
ORF Names:FP7019
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:15718. APCDD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 492466ExtracellularSequence analysisAdd
BLAST
Transmembranei493 – 51220HelicalSequence analysisAdd
BLAST
Topological domaini513 – 5142CytoplasmicSequence analysis

GO - Cellular componenti

  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis 1 (HYPT1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age.
See also OMIM:605389
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91L → R in HYPT1; dominant-negative mutant that perturbs the translational processing from the endoplasmic reticulum to the plasma membrane. 1 Publication
Corresponds to variant rs267606659 [ dbSNP | Ensembl ].
VAR_063497

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

MalaCardsiAPCDD1.
MIMi605389. phenotype.
Orphaneti55654. Hypotrichosis simplex.
PharmGKBiPA24876.

Polymorphism and mutation databases

BioMutaiAPCDD1.
DMDMi74728445.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence analysisAdd
BLAST
Chaini27 – 514488Protein APCDD1PRO_0000227520Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi100 – 1001N-linked (GlcNAc...)Sequence analysis
Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence analysis
Glycosylationi319 – 3191N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

N-Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8J025.
PeptideAtlasiQ8J025.
PRIDEiQ8J025.

PTM databases

iPTMnetiQ8J025.
PhosphoSiteiQ8J025.

Expressioni

Tissue specificityi

Abundantly expressed in heart, pancreas, prostate and ovary. Moderately expressed in lung, liver, kidney, spleen, thymus, colon and peripheral lymphocytes. Abundantly expressed in both the epidermal and dermal compartments of the hair follicle. Present in scalp skin Highly expressed in the hair follicle dermal papilla, the matrix, and the hair shaft (at protein level).2 Publications

Inductioni

Target gene of the Wnt/Beta-catenin pathway, transcriptionally regulated by the CTNNB1/TF7L2 complex.1 Publication

Gene expression databases

BgeeiQ8J025.
CleanExiHS_APCDD1.
ExpressionAtlasiQ8J025. baseline and differential.
GenevisibleiQ8J025. HS.

Organism-specific databases

HPAiHPA014468.

Interactioni

Subunit structurei

Homodimer. Interacts with LRP5 and WNT3A.1 Publication

GO - Molecular functioni

  • Wnt-protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi127063. 5 interactions.
DIPiDIP-56190N.
IntActiQ8J025. 1 interaction.
STRINGi9606.ENSP00000347433.

Structurei

3D structure databases

ProteinModelPortaliQ8J025.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the APCDD1 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGKQ. Eukaryota.
ENOG410XSNW. LUCA.
GeneTreeiENSGT00640000091492.
HOGENOMiHOG000033991.
HOVERGENiHBG060356.
InParanoidiQ8J025.
OMAiAIEGHWV.
PhylomeDBiQ8J025.
TreeFamiTF329491.

Family and domain databases

InterProiIPR029405. APCDD1.
[Graphical view]
PfamiPF14921. APCDDC. 2 hits.
[Graphical view]
SMARTiSM01352. APCDDC. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8J025-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSWPRRLLLR YLFPALLLHG LGEGSALLHP DSRSHPRSLE KSAWRAFKES
60 70 80 90 100
QCHHMLKHLH NGARITVQMP PTIEGHWVST GCEVRSGPEF ITRSYRFYHN
110 120 130 140 150
NTFKAYQFYY GSNRCTNPTY TLIIRGKIRL RQASWIIRGG TEADYQLHNV
160 170 180 190 200
QVICHTEAVA EKLGQQVNRT CPGFLADGGP WVQDVAYDLW REENGCECTK
210 220 230 240 250
AVNFAMHELQ LIRVEKQYLH HNLDHLVEEL FLGDIHTDAT QRMFYRPSSY
260 270 280 290 300
QPPLQNAKNH DHACIACRII YRSDEHHPPI LPPKADLTIG LHGEWVSQRC
310 320 330 340 350
EVRPEVLFLT RHFIFHDNNN TWEGHYYHYS DPVCKHPTFS IYARGRYSRG
360 370 380 390 400
VLSSRVMGGT EFVFKVNHMK VTPMDAATAS LLNVFNGNEC GAEGSWQVGI
410 420 430 440 450
QQDVTHTNGC VALGIKLPHT EYEIFKMEQD ARGRYLLFNG QRPSDGSSPD
460 470 480 490 500
RPEKRATSYQ MPLVQCASSS PRAEDLAEDS GSSLYGRAPG RHTWSLLLAA
510
LACLVPLLHW NIRR
Length:514
Mass (Da):58,797
Last modified:March 1, 2003 - v1
Checksum:i75DA7B8B38E3FFE5
GO

Sequence cautioni

The sequence AAQ04816.1 differs from that shown. Reason: Frameshift at position 133. Curated
The sequence BAG62412.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG64192.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91L → R in HYPT1; dominant-negative mutant that perturbs the translational processing from the endoplasmic reticulum to the plasma membrane. 1 Publication
Corresponds to variant rs267606659 [ dbSNP | Ensembl ].
VAR_063497
Natural varianti150 – 1501V → I.
Corresponds to variant rs3748415 [ dbSNP | Ensembl ].
VAR_050667

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB056722 mRNA. Translation: BAC15563.1.
AB104887 mRNA. Translation: BAC65165.1.
AK300743 mRNA. Translation: BAG62412.1. Different initiation.
AK303076 mRNA. Translation: BAG64192.1. Different initiation.
BC053324 mRNA. Translation: AAH53324.1.
AF461902 mRNA. Translation: AAQ04816.1. Frameshift.
CCDSiCCDS11849.1.
RefSeqiNP_694545.1. NM_153000.4.
UniGeneiHs.293274.

Genome annotation databases

EnsembliENST00000355285; ENSP00000347433; ENSG00000154856.
GeneIDi147495.
KEGGihsa:147495.
UCSCiuc002kom.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB056722 mRNA. Translation: BAC15563.1.
AB104887 mRNA. Translation: BAC65165.1.
AK300743 mRNA. Translation: BAG62412.1. Different initiation.
AK303076 mRNA. Translation: BAG64192.1. Different initiation.
BC053324 mRNA. Translation: AAH53324.1.
AF461902 mRNA. Translation: AAQ04816.1. Frameshift.
CCDSiCCDS11849.1.
RefSeqiNP_694545.1. NM_153000.4.
UniGeneiHs.293274.

3D structure databases

ProteinModelPortaliQ8J025.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127063. 5 interactions.
DIPiDIP-56190N.
IntActiQ8J025. 1 interaction.
STRINGi9606.ENSP00000347433.

PTM databases

iPTMnetiQ8J025.
PhosphoSiteiQ8J025.

Polymorphism and mutation databases

BioMutaiAPCDD1.
DMDMi74728445.

Proteomic databases

PaxDbiQ8J025.
PeptideAtlasiQ8J025.
PRIDEiQ8J025.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355285; ENSP00000347433; ENSG00000154856.
GeneIDi147495.
KEGGihsa:147495.
UCSCiuc002kom.5. human.

Organism-specific databases

CTDi147495.
GeneCardsiAPCDD1.
HGNCiHGNC:15718. APCDD1.
HPAiHPA014468.
MalaCardsiAPCDD1.
MIMi605389. phenotype.
607479. gene.
neXtProtiNX_Q8J025.
Orphaneti55654. Hypotrichosis simplex.
PharmGKBiPA24876.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGKQ. Eukaryota.
ENOG410XSNW. LUCA.
GeneTreeiENSGT00640000091492.
HOGENOMiHOG000033991.
HOVERGENiHBG060356.
InParanoidiQ8J025.
OMAiAIEGHWV.
PhylomeDBiQ8J025.
TreeFamiTF329491.

Miscellaneous databases

GenomeRNAii147495.
PROiQ8J025.
SOURCEiSearch...

Gene expression databases

BgeeiQ8J025.
CleanExiHS_APCDD1.
ExpressionAtlasiQ8J025. baseline and differential.
GenevisibleiQ8J025. HS.

Family and domain databases

InterProiIPR029405. APCDD1.
[Graphical view]
PfamiPF14921. APCDDC. 2 hits.
[Graphical view]
SMARTiSM01352. APCDDC. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a novel human gene, APCDD1, as a direct target of the b-catenin/T-cell factor 4 complex with probable involvement in colorectal carcinogenesis."
    Takahashi M., Fujita M., Furukawa Y., Hamamoto R., Shimokawa T., Miwa N., Ogawa M., Nakamura Y.
    Cancer Res. 62:5651-5656(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, INDUCTION.
    Tissue: Colon1 PublicationImported.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Neuroepithelioma and Thymus.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: OvaryImported.
  4. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-514.
  5. Cited for: VARIANT HYPT1 ARG-9, CHARACTERIZATION OF VARIANT HYPT1 ARG-9, GLYCOSYLATION, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, SUBUNIT, INTERACTION WITH LRP5 AND WNT3A.

Entry informationi

Entry nameiAPCD1_HUMAN
AccessioniPrimary (citable) accession number: Q8J025
Secondary accession number(s): B4DUQ0, B4DZT0, Q71M25
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 1, 2003
Last modified: July 6, 2016
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.